Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.

ABSTRACT:

Background

Permanent progression of paternal age and development of reproductive medicine lead to increase in number of children conceived with assisted reproductive techniques (ART). Although it is uncertain if ARTs have direct influence on offspring health, advanced paternal age, associated comorbidities and reduced fertility possess significant risks of genetic disorders to the offspring. With a broad implementation of a non-invasive prenatal testing (NIPT), more cases of genetic disorders, including sex discordance are revealed. Among biological causes of sex discordance are disorders of sexual development, majority of which are associated with the SRY gene.

Case presentation

We report a case of a non-invasive prenatal testing and ultrasound sex discordance in a 46,XY ka

SUBMITTER: Zhytnik L 

PROVIDER: S-EPMC8818175 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature